A novel mutation in the STK4 gene (Serine/threonine kinase 4) in a Chinese Blang child.
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BACKGROUND: This study explored the clinical phenotypic characteristics, auxiliary examination findings, and gene mutation features of a patient with an STK4 gene mutation to increase the ability of clinicians to identify STK4 deficiency early and provide more targeted guidance for optimizing subsequent diagnosis and treatment protocols to improve patient prognosis. METHODS: We conducted a retrospective analysis of the clinical data and follow‑up information for a patient with an STK4 gene variant and their family members (of the proband) who presented to the Department of Respiratory Medicine, Kunming Medical University Children's Hospital, on August 21, 2024. Whole‑exome sequencing (WES) was used to screen for candidate variants, and Sanger sequencing was employed for family validation. Comprehensive analysis was performed by integrating results from quantitative EBV‑DNA testing, EBV serology, and MetaCAP high‑throughput pathogen nucleic acid sequencing. RESULTS: The patient presented with recurrent infections since early childhood. Ancillary examinations revealed hepatosplenomegaly. Immunological evaluation showed a marked reduction in CD4+T cells accompanied by hypogammaglobulinemia. Genetic testing identified a homozygous variant in the STK4 gene: NM_006282.5:c.305T>G (p.M102R). Sanger sequencing confirmed that both parents were heterozygous carriers of this variant, consistent with an autosomal recessive inheritance pattern. Combined with the clinical manifestations, immunological abnormalities, family segregation analysis, and ACMG/AMP criteria, this variant was considered a likely pathogenic variant strongly associated with the patient's phenotype. CONCLUSIONS: This study reports a child with a homozygous variant in the STK4 gene. This case helps deepen the understanding of immune abnormalities associated with STK4 deficiency and underscores the importance of early genetic screening and immunological evaluation to facilitate early diagnosis and individualized management.